Details of Disease

General Information of Disease (ID: DISOV0CG)

Disease Name Mosaic variegated aneuploidy syndrome 1
Synonyms
MVA1; MOSAIC variegated aneuploidy syndrome 1; MVA syndrome; mosaic variegated aneuploidy syndrome caused by mutation in BUB1B; Mosaic variegated aneuploidy syndrome type 1; BUB1B mosaic variegated aneuploidy syndrome; mosaic variegated aneuploidy syndrome 1; mosaic variegated aneuploidy syndrome type 1
Definition Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.
Disease Hierarchy
DIS5QTMU: Mosaic variegated aneuploidy syndrome
DISOV0CG: Mosaic variegated aneuploidy syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009759
MESH ID
C536987
UMLS CUI
C1850343
OMIM ID
257300
MedGen ID
338026

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BUB1 TT78309 Strong Genetic Variation [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BUB3 OTU91HAU Strong Genetic Variation [1]
CEP57 OTPOHLIX Strong Genetic Variation [2]
CNTN3 OTC1274J Strong Biomarker [3]
TRIP13 OTFM3TI9 Strong GermlineCausalMutation [4]
BUB1B OT8KME51 Definitive Autosomal recessive [5]
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References

1 Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.Mol Cancer. 2018 Feb 15;17(1):23. doi: 10.1186/s12943-018-0762-8.
2 The Cep57-pericentrin module organizes PCM expansion and centriole engagement.Nat Commun. 2019 Feb 25;10(1):931. doi: 10.1038/s41467-019-08862-2.
3 Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.J Obstet Gynaecol Res. 2018 Jul;44(7):1313-1317. doi: 10.1111/jog.13647. Epub 2018 Apr 19.
4 Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. doi: 10.1038/ng.3883. Epub 2017 May 29.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.